ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)

dbSNP: rs113994146
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003811121 SCV004612111 pathogenic Pyruvate carboxylase deficiency 2023-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with pyruvate carboxylase deficiency (PMID: 18676167). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser705*) in the PC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PC are known to be pathogenic (PMID: 12112657, 19306334).

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